Canonical Allele Identifier: CA1826874084
Gene: DOCK8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.377151C= , CM000671.2:g.377151C= GRCh38
NC_000009.11:g.377151C= , CM000671.1:g.377151C= GRCh37
NC_000009.10:g.367151C= NCBI36
NG_017007.1:g.167287C= , LRG_196:g.167287C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.2176C= ENSP00000371766.2:p.Leu726=
ENST00000382331.6:n.877C=
ENST00000483757.6:c.*1067C= ENSP00000417691.2:n.*1067C=
ENST00000682260.1:n.2276C=
ENST00000685949.1:n.1168C=
ENST00000432829.7:c.2380C= MANE Select ENSP00000394888.3:p.Leu794=
ENST00000382329.1:c.781C= ENSP00000371766.1:p.Leu261=
ENST00000382331.5:c.286C= ENSP00000371768.1:p.Leu96=
ENST00000432829.6:c.2380C= ENSP00000394888.3:p.Leu794=
ENST00000453981.5:c.2176C= ENSP00000408464.2:p.Leu726=
ENST00000469391.5:c.2176C= ENSP00000419438.1:p.Leu726=
ENST00000483757.5:c.*1855C= ENSP00000417691.1:n.*1855C=
ENST00000495184.5:n.4335C=
NM_001190458.1:c.2176C= NP_001177387.1:p.Leu726=
NM_001193536.1:c.2176C= NP_001180465.1:p.Leu726=
NM_203447.3:c.2380C= , LRG_196t1:c.2380C= NP_982272.2:p.Leu794=
XM_011518045.1:c.2176C= XP_011516347.1:p.Leu726=
XM_011518046.1:c.2242C= XP_011516348.1:p.Leu748=
XM_011518047.1:c.2176C= XP_011516349.1:p.Leu726=
XM_011518048.1:c.2176C= XP_011516350.1:p.Leu726=
XM_011518049.1:c.616C= XP_011516351.1:p.Leu206=
XM_011518045.3:c.2176C= XP_011516347.1:p.Leu726=
XM_011518046.2:c.2242C= XP_011516348.1:p.Leu748=
XM_011518047.3:c.2176C= XP_011516349.1:p.Leu726=
XM_011518048.2:c.2176C= XP_011516350.1:p.Leu726=
XM_011518049.2:c.616C= XP_011516351.1:p.Leu206=
XM_017015173.1:c.2176C= XP_016870662.1:p.Leu726=
XM_017015174.1:c.2242C= XP_016870663.1:p.Leu748=
NM_001190458.2:c.2176C= NP_001177387.1:p.Leu726=
NM_001193536.2:c.2176C= NP_001180465.1:p.Leu726=
NM_203447.4:c.2380C= MANE Select NP_982272.2:p.Leu794=